Alternate forms of a gene or DNA sequence (genetic variant) at a particular chromosome location.
For example, different alleles of the ABO gene on human chromosome 9 determine ABO blood type.
A new personalised genetic therapy has shown early success in treating two children with a rare genetic epilepsy syndrome...
Chronic inflammation and premature ageing of the ovaries have been associated with the loss of a specific gene in mice...
The Scottish Government has launched newborn screening for spinal muscular atrophy, allowing earlier diagnosis and access to potentially life-changing treatment...
Hitler's DNA has been identified and sequenced for the first time. Senior science writer, Dr Matteo Cortese, reviews a BBC programme investigating what the DNA reveals about Hitler's heritage – discussing the technology at its core: polygenic scores...
Having specific versions of a gene known as APOE may cause most cases of Alzheimer's disease, according to a new study analysing the genetics of the disease...
This event, hosted by the British Society for Genetic Medicine, featured two talks by clinical experts on preconception carrier screening followed by an opportunity for questions...
A genetic oral swab test to determine which hormone treatment is best for egg maturation before IVF has been developed...
Over 3000 genetic variants could disrupt normal function of the RAD51C breast and ovarian cancer gene...
Menopause occurs an average of nine years earlier in women with two copies of a variant of the CCDC201 gene...
A novel genetic variant reduces the risk of Alzheimer's disease by up to 70 percent in people who are predisposed...
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